Abstract
August E. Woerner
Abstract
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Developmental validation of STRmix™ NGS, a probabilistic genotyping tool for the interpretation of autosomal STRs from forensic profiles generated using NGS
10.1016/j.fsigen.2022.102804 · 2023
EFMex: using EuroForMix to evaluate DNA mixtures with multiple persons of interest
10.1016/j.fsigen.2025.103365 · 2026
MixDeR: A SNP mixture deconvolution workflow for forensic genetic genealogy
10.1016/j.fsigen.2025.103224 · 2025
Decomposition of individual SNP patterns from Mixed DNA Samples
10.3390/forensicsci2030034 · 2022
Correcting for sample contamination in genotype calling of DNA sequence data
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A genotype likelihood function for DNA mixtures
10.1016/j.fsigen.2022.102776 · 2022
Imputation of low-coverage sequencing data from 150,119 UK Biobank genomes
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Efficient phasing and imputation of low-coverage sequencing data using large reference panels
10.1038/s41588-020-00756-0 · 2021
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Bioinformatic processing of whole genome sequencing data with Tapir
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A harmonized public resource of deeply sequenced diverse human genomes
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Optimizing hard cutoff quality control metrics for IBD segment inference and genotyping accuracy in low-coverage sequencing data
10.1016/j.fsigen.2026.103585 · 2027
Developmental validation of a whole genome sequencing workflow for use in a forensic laboratory
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Robust relationship inference in genome-wide association studies
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AKT: ancestry and kinship toolkit
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Rapid, phase-free detection of long identity-by-descent segments enables effective relationship classification
10.1016/j.ajhg.2020.02.012 · 2020
Visualization of shared genomic regions and meiotic recombination in high-density SNP data
10.1371/journal.pone.0006711 · 2009
Numt identification and removal with RtN!
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HTSlib: C library for reading/writing high-throughput sequencing data
10.1093/gigascience/giab007 · 2021
R: A language and environment for statistical computing
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Unresolved referenced work
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Welcome to the Tidyverse
10.21105/joss.01686 · 2019
Genotype calling from population-genomic sequencing data
10.1534/g3.117.039008 · 2017
Mapping short DNA sequencing reads and calling variants using mapping quality scores
10.1101/gr.078212.108 · 2008
The need for standards and certification for investigative genetic genealogy, and a notice of action
10.1016/j.forsciint.2022.111495 · doi-reference
Regulating forensic genetic genealogy
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Privacy and genetic genealogy data
10.1126/science.aav0330 · doi-reference
ANGSD: analysis of next generation sequencing data
10.1186/s12859-014-0356-4 · doi-reference
Nuclear and mitochondrial genetic variants associated with mitochondrial DNA copy number
10.1038/s41598-024-52373-0 · doi-reference
Evaluating genotype imputation pipeline for ultra-low coverage ancient genomes
10.1038/s41598-020-75387-w · doi-reference
Evaluating the impact of dropout and genotyping error on SNP-based kinship analysis with forensic samples
10.3389/fgene.2022.882268 · doi-reference
Maximum-likelihood estimation of recent shared ancestry (ERSA)
10.1101/gr.115972.110 · doi-reference
Relationship inference with low-coverage whole genome sequencing on forensic samples
10.1089/forensic.2022.0009 · doi-reference
Genotype imputation from large reference panels
10.1146/annurev-genom-083117-021602 · doi-reference
A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data
10.1093/bioinformatics/btr509 · doi-reference
Mapping short DNA sequencing reads and calling variants using mapping quality scores
10.1101/gr.078212.108 · doi-reference
Genotype calling from population-genomic sequencing data
10.1534/g3.117.039008 · doi-reference
Welcome to the Tidyverse
10.21105/joss.01686 · doi-reference
HTSlib: C library for reading/writing high-throughput sequencing data
10.1093/gigascience/giab007 · doi-reference
Numt identification and removal with RtN!
10.1093/bioinformatics/btaa642 · doi-reference
Visualization of shared genomic regions and meiotic recombination in high-density SNP data
10.1371/journal.pone.0006711 · doi-reference
Rapid, phase-free detection of long identity-by-descent segments enables effective relationship classification
10.1016/j.ajhg.2020.02.012 · doi-reference
AKT: ancestry and kinship toolkit
10.1093/bioinformatics/btw576 · doi-reference
Robust relationship inference in genome-wide association studies
10.1093/bioinformatics/btq559 · doi-reference
Developmental validation of a whole genome sequencing workflow for use in a forensic laboratory
10.1016/j.fsigen.2025.103380 · doi-reference
Optimizing hard cutoff quality control metrics for IBD segment inference and genotyping accuracy in low-coverage sequencing data
10.1016/j.fsigen.2026.103585 · doi-reference
A harmonized public resource of deeply sequenced diverse human genomes
10.1101/gr.278378.123 · doi-reference
Bioinformatic processing of whole genome sequencing data with Tapir
10.1016/j.fsigen.2025.103387 · doi-reference
Twelve years of SAMtools and BCFtools
10.1093/gigascience/giab008 · doi-reference
High-coverage whole-genome sequencing of the expanded 1000 genomes project cohort including 602 trios
10.1016/j.cell.2022.08.004 · doi-reference
DNA profile match probability calculation: how to allow for population stratification, relatedness, database selection and single bands
10.1016/0379-0738(94)90222-4 · doi-reference
Characterizing DNA mixtures with demixtify
10.1016/j.fsigen.2026.103451 · doi-reference
ClusIBD: robust detection of identity-by-descent segments using unphased genetic data from poor-quality samples
10.1093/gpbjnl/qzaf055 · doi-reference
Accurate detection of identity-by-descent segments in human ancient DNA
10.1038/s41588-023-01582-w · doi-reference
A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals
10.1016/j.ajhg.2009.01.005 · doi-reference
Efficient phasing and imputation of low-coverage sequencing data using large reference panels
10.1038/s41588-020-00756-0 · doi-reference
Imputation of low-coverage sequencing data from 150,119 UK Biobank genomes
10.1038/s41588-023-01438-3 · doi-reference
A genotype likelihood function for DNA mixtures
10.1016/j.fsigen.2022.102776 · doi-reference
Correcting for sample contamination in genotype calling of DNA sequence data
10.1016/j.ajhg.2015.07.002 · doi-reference
Decomposition of individual SNP patterns from Mixed DNA Samples
10.3390/forensicsci2030034 · doi-reference
MixDeR: A SNP mixture deconvolution workflow for forensic genetic genealogy
10.1016/j.fsigen.2025.103224 · doi-reference
EFMex: using EuroForMix to evaluate DNA mixtures with multiple persons of interest
10.1016/j.fsigen.2025.103365 · doi-reference
Developmental validation of STRmix™ NGS, a probabilistic genotyping tool for the interpretation of autosomal STRs from forensic profiles generated using NGS
10.1016/j.fsigen.2022.102804 · doi-reference
CHARR efficiently estimates contamination from DNA sequencing data
10.1016/j.ajhg.2023.10.011 · doi-reference